Search results for "DEFECTS"
showing 10 items of 339 documents
Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.
2015
INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT).METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept.RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated wit…
Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions
2013
Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).Design A population-based case-control study.Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008.Population The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13371 controls with recognised syndromes or chromosomal abnormalities.Methods Multiple logistic regression analyses were used to calculate adjusted odds ratios …
Irradiation effects on the OH-related infrared absorption band in synthetic wet silica.
2007
The effects of b-irradiation on the OH-related infrared (IR) absorption band in synthetic wet silica samples have been investigated by Fourier transform infrared spectroscopy. Depending on the accumulated doses, b-irradiation affects different zones of the IR composite band at about 3670 cm 1 , assigned to the OH stretching modes of silanol groups. These modifications are independent of the original OH content. The results are discussed considering possible radiation-induced changes of the silanol bonding configuration and of the glass network. These are monitored by revealing the IR band a 2260 cm 1 , which is related to the distribution of Si–O–Si bond angle. We have identified the existence of…
In-situ observation of beta-ray induced UV optical absorption in a-SiO2: radiation darkening and room temperature recovery
2006
International audience; We studied the optical absorption in the 3.0-6.2 eV range induced in bulk amorphous SiO2 by beta-ray irradiation up to similar to 1 MGy at room temperature. The induced absorption was measured in situ both during irradiation and in the post irradiation time. Our data evidence E', center as the main defect induced by irradiation and the partial decay of their absorption band at about 5.8 eV after irradiation. A quantitative analysis of the time evolution of the induced absorption shows that the transmission recovery observed after irradiation is compatible with the reaction of radiation-induced defects with H-related (H-2, H2O) species diffusing in the amorphous matrix
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
2005
Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…
A comparison among different techniques for human ERG signals processing and classification
2014
A comparison among different techniques for human ERG signals processing and classification ( Articles not published yet, but available online Article in press About articles in press (opens in a new window) ) Barraco, R.a, Persano Adorno, D.a , Brai, M.a, Tranchina, L.b a Dipartimento di Fisica e Chimica, Università di Palermo and CNISM, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy b Laboratorio di Fisica e Tecnologie Relative - UniNetLab, Università di Palermo, Viale delle Scienze, Ed. 18, I-90128 Palermo, Italy Abstract Feature detection in biomedical signals is crucial for deepening our knowledge about the involved physiological processes. To achieve this aim, many analytic appro…
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia
2002
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
Oral health of cystic fibrosis patients at a north american center: A pilot study
2019
Background The objective of this study was to describe the oral health status of Cystic Fibrosis (CF) children in a US facility. Material and Methods Twenty CF children ages 6-18 were recruited from Children’s Hospital of Wisconsin Pulmonary Clinic. Parents completed a health questionnaire. Clinical examinations checked dental caries using the dmft/DMFT index, dental hygiene using the Simplified Greene-Vermillion Index (DI-S), gingival inflammation using the Community Periodontal Index of Treatment Needs, and enamel defects using the modified Developmental Defects of Enamel Index. Results The majority (90%) brush twice a day, 65% consume sugary snacks, and 70% visit the dentist every 6 mont…
Effect of aneurysm on the mechanical dissection properties of the human ascending thoracic aorta
2012
Objectives: The acute dissection of an ascending thoracic aortic aneurysm (ATAA) represents a devastating separation of elastic layers occurring when the hemodynamic loads on the diseased wall exceed the adhesive strength between layers. At present, the mechanics underlying aortic dissection are largely unclear, and the biomechanical delamination properties of the aneurysmal aorta are not defined. Individuals with bicuspid aortic valve (BAV) are particularly predisposed to ascending aortic aneurysm formation, with a marked risk of aortic dissection. The purpose of this study was to evaluate and compare the dissection properties of nonaneurysmal and aneurysmal human ascending thoracic aorta …
Cardiac Magnetic Resonance with Delayed Enhancement of the Right Ventricle in patients with Left Ventricle primary involvement: diagnosis and evaluat…
2020
: Cardiac Magnetic Resonance (CMR) allows an accurate Right Ventricle (RV) assessment that could be of great relevance in diseases causing inflammation or fibrosis. The aim of this study was to evaluate the concomitant involvement of the RV in patients with delayed enhancement (DE) of the Left Ventricle (LV-DE) using CMR. We retrospectively enrolled 95 (male n. 66; age 55±18years; BMI 26±5kg/m2) consecutive patients with LV-DE who underwent a CMR (Achieva 1.5 T, Philips) for different indications: post-ischemic dilated cardiopathy (PDM), hypertrophic cardiomyopathy (HCM), myocardial infarction (MI), myocarditis/pericarditis (MP) and congenital heart disease (CD). We assessed the presence an…